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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HCRTR2

Variant:p.A314A

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HCRTR2

NM_001384272.1:p.A314A

hg38:chr6:55277559 A>G

Associated Papers

Absence of mutations in HCRT, HCRTR1 and HCRTR2 in patients with ROHHAD.

Barclay SF et al.

Respiratory Physiology & Neurobiology, 2016

26555080 (PubMed )

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."